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251 related items for PubMed ID: 32378798

  • 21. Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.
    Suoranta S, Manninen H, Koskenkorva P, Könönen M, Laitinen R, Lehesjoki AE, Kälviäinen R, Vanninen R.
    Bone; 2012 Dec; 51(6):1016-24. PubMed ID: 23010349
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  • 22. Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.
    Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M, Hakala P, Pehkonen H, Korpi ER, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki AE.
    PLoS One; 2014 Dec; 9(2):e89321. PubMed ID: 24586687
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  • 23. Clinical picture of EPM1-Unverricht-Lundborg disease.
    Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E.
    Epilepsia; 2008 Apr; 49(4):549-56. PubMed ID: 18325013
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  • 24. Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
    Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O.
    Epilepsy Res; 2012 Mar; 99(1-2):187-90. PubMed ID: 22154554
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  • 25. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
    Lalioti MD, Antonarakis SE, Scott HS.
    Cytogenet Genome Res; 2003 Mar; 100(1-4):213-23. PubMed ID: 14526183
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  • 29. Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1).
    Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM.
    J Neurobiol; 2003 Sep 15; 56(4):315-27. PubMed ID: 12918016
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  • 34. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
    Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE.
    Am J Hum Genet; 1997 Feb 15; 60(2):342-51. PubMed ID: 9012407
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  • 35. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
    Weinhaeusel A, Morris MA, Antonarakis SE, Haas OA.
    Hum Mutat; 2003 Nov 15; 22(5):404-8. PubMed ID: 14517952
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  • 36. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
    Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE.
    Gene; 2000 Jan 25; 242(1-2):65-73. PubMed ID: 10721698
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  • 37. Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.
    Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM.
    J Neuropathol Exp Neurol; 2002 Dec 25; 61(12):1085-91. PubMed ID: 12484571
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  • 38. Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
    Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE.
    J Neurosci; 2009 May 06; 29(18):5910-5. PubMed ID: 19420257
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  • 39. Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.
    Hosny H, El Tamawy M, Gouider R, Lesca G, Abdel Naseer M, Kishk N, Abdel-Hamid MS, Ashmawi A.
    Epilepsy Res; 2021 Oct 06; 176():106746. PubMed ID: 34474241
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  • 40. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
    Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F.
    Epilepsia; 2012 Dec 06; 53(12):2120-7. PubMed ID: 23205931
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